rs729302, None

N. diseases: 6
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.820 GeneticVariation GWASDB Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians. 23273568 2013
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.820 GeneticVariation GWASCAT Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians. 23273568 2013
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.820 GeneticVariation GWASCAT Genome-wide pathway analysis of genome-wide association studies on systemic lupus erythematosus and rheumatoid arthritis. 23053960 2012
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.820 GeneticVariation GWASDB Genome-wide pathway analysis of genome-wide association studies on systemic lupus erythematosus and rheumatoid arthritis. 23053960 2012
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.820 GeneticVariation BEFREE And this meta-analysis also showed a significant association of rs729302 (OR = 0.78, 95% CI 0.74-0.83, P = 0.000), rs2280714 (OR = 0.90, 95% CI 0.83-0.98, P = 0.021) with SLE. 21834935 2011
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.820 GeneticVariation GWASDB Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production. 21408207 2011
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.820 GeneticVariation BEFREE The CGGGG indel explains the association signal from multiple SNPs in the IRF5 gene, including rs2004640, rs10954213 and rs729302 previously considered to be causal variants in SLE. 18063667 2008
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.820 GeneticVariation GWASDB Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. 18204446 2008
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.030 GeneticVariation BEFREE This meta-analysis confirms that the IRF5 rs2004640, rs729302</span> and rs752637 polymorphisms are associated with RA susceptibility in different ethnic groups, especially in Europeans and Asians, but further study of this association is required in other ethnic groups. 23073787 2013
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.030 GeneticVariation BEFREE Odds ratios (OR) were employed to evaluate the risk of RA according to the 4 single-nucleotide polymorphisms (SNP) in IRF5 (rs729302, rs2004640, rs752637, and rs2280714) and data were analyzed in respect to association between alleles. 19228650 2009
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.030 GeneticVariation BEFREE When the patients were stratified by the SE, the rs729302</span> A allele was found to confer increased risk to RA</span> in patients that were SE negative (OR 1.50, 95% CI 1.17 to 1.92, p = 0.001) as compared with patients carrying the SE (OR 1.11, 95% CI 0.93 to 1.33, p = 0.24). 18408250 2009
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.010 GeneticVariation BEFREE The haplotype carrying rs10954213A and rs2280714A (haplotype 2) was significantly associated with susceptibility to sarcoidosis (OR = 2.00, 95% CI = 1.24-3.24, P = 0.004, corrected P = 0.01). rs729302 and rs2004640 were not associated with susceptibility to sarcoidosis, whereas carriage of rs2004640G was protective against pulmonary hypertension (OR = 0.017, 95% CI = 0.002-0.15, P < 0.001, corrected P < 0.001). 23288367 2013
Sarcoidosis
CUI: C0036202
Disease: Sarcoidosis
0.010 GeneticVariation BEFREE The haplotype carrying rs10954213A and rs2280714A (haplotype 2) was significantly associated with susceptibility to sarcoidosis (OR = 2.00, 95% CI = 1.24-3.24, P = 0.004, corrected P = 0.01). rs729302 and rs2004640 were not associated with susceptibility to sarcoidosis, whereas carriage of rs2004640G was protective against pulmonary hypertension (OR = 0.017, 95% CI = 0.002-0.15, P < 0.001, corrected P < 0.001). 23288367 2013
Lymphohistiocytosis, Hemophagocytic
CUI: C0024291
Disease: Lymphohistiocytosis, Hemophagocytic
0.010 GeneticVariation BEFREE The IRF5 haplotype (rs729302 A, rs2004640 T, and rs2280714 T) was associated with secondary HLH susceptibility (p < 0.01). 21898142 2011
Macrophage Activation Syndrome
CUI: C1096155
Disease: Macrophage Activation Syndrome
0.010 GeneticVariation BEFREE The IRF5 haplotype (rs729302 A, rs2004640 T, and rs2280714 T), which was reported as conferring an increased risk of SLE, was significantly associated with MAS susceptibility in patients with systemic JIA (OR 4.61; 95% CI 1.73, 12.3; p < 0.001). 21239750 2011